Caroli syndrome in full brothers caused by new mutation of PKHD1 gene / 中华普通外科杂志

ABSTRACT

Objective@#To explore the new gene mutation and clinical manifestations of Caroli syndrome in 2 blood brother cases.@*Methods@#The clinical data of the 2 brothers with clinical diagnosis of Caroli syndrome were analyzed, and the related genes were detected by second-generation sequencing technology.@*Results@#The PKHD1 gene of both brothers had the mutation of c. 5059A>T(exon32). c. 4358(exon 32)delC shift mutation, neither of which has been reported in OMIM database.@*Conclusion@#After analysis, c. 4358(exon32) delC and c. 5059A>T(exon32) may be the new pathogenic mutation of this disease, with the same mutant genotype but completely different phenotype.